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Case Reports
. 2018 Jul-Sep;13(3):355-357.
doi: 10.4103/JPN.JPN_8_18.

Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child

Faruk Incecik  1 , Ozlem M Hergüner  1 , Atil Bisgin  2
Affiliations
Case Reports

Autosomal-Recessive Spastic Ataxia of Charlevoix-Saguenay: A Turkish Child

Faruk Incecik et al. J Pediatr Neurosci. 2018 Jul-Sep.

Abstract

Autosomal-recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by mutations of the SACS gene, characterized by late-infantile-onset spastic ataxia and other neurological features. ARSACS has a high prevalence in northeastern Quebec, Canada. Recently, several ARSACS cases have been reported from outside Canada. We report typical clinical and neuroimaging features in a Turkish child, which confirmed genetic diagnosis of ARSACS.

Keywords: Autosomal recessive spastic ataxia of Charlevoix-Saguenay; ataxia; genetic study.

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Conflict of interest statement

There are no conflicts of interest.

Figures

Figure 1
Figure 1
Cerebral magnetic resonance imaging showing atrophy of the superior cerebellar vermis and linear hypodensity in the pons
See this image and copyright information in PMC

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